Evidence map›Paper›PMID 34513876›Full record

ArticleFrontiers in medicine2021

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With

Justyna Paprocka, Magdalena Nowak, Maria Nieć, Izabela Janik, Małgorzata Rydzanicz, Śmigiel Robert, Magdalena Klaniewska, Karolina Rutkowska, Rafał Płoski, Aleksandra Jezela-Stanek

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 34% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. The spectrum of heart defects in theProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Justyna PaprockaDepartment of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Magdalena NowakStudents' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Maria NiećStudents' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Izabela JanikStudents' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Śmigiel RobertDepartment of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
Magdalena KlaniewskaDepartment of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
Karolina RutkowskaDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Aleksandra Jezela-StanekDepartment of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Medical University of Silesia · PLMedical University of Warsaw · PLWroclaw Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Germline variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) gene have recently been described in about 50 patients with developmental delay and cardiac, facial, and digital anomalies (CAFDADD). We aimed to depict further the clinical and genetic spectrum associated with

Indexed as

blepharophimosisdevelopmental delaydysmorphic featuresfacial featuresptosisTRAF7 variants

Identifiers

PMID34513876
PMCPMC8428514
OpenAlexW3196427084

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.